What it felt like when we learned our child has SLC6A1?
We immediately felt the metaphorical “punch in the gut”. It was beyond anything we could have ever imagined. We were rendered helpless. Sad… Mad… Confused.
How did you know something was wrong?
We first noticed at around 6 months that Gabriel would not use his hands to reach or pick up anything. He was delayed in hitting all of his milestones and he never learned to crawl. At around 2 years old, his delays started to become very obvious. We started noticing heavy eye blinking, zoning out, and him falling down for no reason at all. We then learned that all of these symptoms were caused by seizures.
The hardest part of being an SLC6A1 family?
The hardest part of being an SLC6A1 family is watching our loved one struggle. He is such a happy, funny, loving kid and it is very difficult to see him progress through life with this horrendous disease. Everything is more difficult for him than for others without SLC6A1. Hot days, lack of sleep, and even certain types of foods exasperate his seizures and make it extremely hard to enjoy everyday activities of a child his age.
What are your dreams for Gabriel?
Our dreams for our child are for him to achieve everything that he is capable of and that he will be able to live a happy, fulfilling life.
Why would you like people to donate to Arthur’s Quest?
I would like for people to donate to SLC6A1 because these donors are our best chance at finding a cure for this terrible disease. This organisation is working with SLC6A1 connect who have made absolutely amazing progress in a very short time and we have confidence that they can help to find a cure if we are able to raise enough money. We need you.